Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.030 GeneticVariation BEFREE Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. 30508004

2020
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.030 GeneticVariation BEFREE Our data showed that PTPN22 C1858T (considered a risk variant) is not associated with TS (X<sup>2</sup>  = 3.50, p = .61, and OR = 0.33 [95% CI = 0.10-1.10]). 28627089

2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.030 GeneticVariation BEFREE Genotypes CC, CT and TT of the PTPN22 C1858T polymorphism presented frequencies of, respectively, 67.6%, 28.2% and 4.2% in the TS, and 82.8%, 16.1% and 1.1% in the control group (P = 0.0043). 20696024

2010